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A zebrafish model of Poikiloderma with Neutropenia recapitulates the human syndrome hallmarks and traces back neutropenia to the myeloid progenitor

Poikiloderma with Neutropenia (PN) is an autosomal recessive genodermatosis characterized by early-onset poikiloderma, pachyonychia, hyperkeratosis, bone anomalies and neutropenia, predisposing to myelodysplasia. The causative C16orf57/USB1 gene encodes a conserved phosphodiesterase that regulates t...

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Bibliografische gegevens
Gepubliceerd in:Sci Rep
Hoofdauteurs: Colombo, Elisa A., Carra, Silvia, Fontana, Laura, Bresciani, Erica, Cotelli, Franco, Larizza, Lidia
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Nature Publishing Group 2015
Onderwerpen:
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4629135/
https://ncbi.nlm.nih.gov/pubmed/26522474
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep15814
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